ANO10 (anoctamin 10)

2014-11-01  

Identity

HGNC
ANO10
LOCATION
3p22.1
LOCUSID
55129
ALIAS
SCAR10,TMEM16K
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55129
MIM: 613726
HGNC: 25519
Ensembl: ENSG00000160746

Variants:

dbSNP: 55129
ClinVar: 55129
TCGA: ENSG00000160746
COSMIC: ANO10

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160746ENST00000292246Q9NW15
ENSG00000160746ENST00000292246A0A024R2S0
ENSG00000160746ENST00000350459Q9NW15
ENSG00000160746ENST00000396091Q9NW15
ENSG00000160746ENST00000413397C9IYD3
ENSG00000160746ENST00000414522Q9NW15
ENSG00000160746ENST00000427171C9J670
ENSG00000160746ENST00000428472C9JH90
ENSG00000160746ENST00000428831C9IZD0
ENSG00000160746ENST00000436073C9JJS5
ENSG00000160746ENST00000439141C9JA49
ENSG00000160746ENST00000444344C9JPY2
ENSG00000160746ENST00000448045H7C3N6
ENSG00000160746ENST00000451430Q9NW15
ENSG00000160746ENST00000456438C9JQC9

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
225276812012Recent advances in the genetics of cerebellar ataxias.26
251827002014ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.19
250899192014Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.14
242757212014Genetics of dizziness: cerebellar and vestibular disorders.13
278383742017Cellular defects by deletion of ANO10 are due to deregulated local calcium signaling.13
220088742012ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies.12
257307732015A Coding Variant of ANO10, Affecting Volume Regulation of Macrophages, Is Associated with Borrelia Seropositivity.12
314776912019The structural basis of lipid scrambling and inactivation in the endoplasmic reticulum scramblase TMEM16K.7
270458402016Executive and Attentional Disorders, Epilepsy and Porencephalic Cyst in Autosomal Recessive Cerebellar Ataxia Type 3 Due to ANO10 Mutation.4
277879372016Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia.3

Citation

Dessen P

ANO10 (anoctamin 10)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60375/ano10